{
    "title": "TP53 mutation and haplotype analysis of two large African American families.",
    "journal": "Human mutation",
    "date": "1999",
    "authors": "Hung J, Mims B, Lozano G, Strong L, Harvey C, Chen TT, Stastny V, Tomlinson G",
    "reference": {
        "type": "PubMed",
        "id": "10477429",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10477429"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "P04637-1",
            "protein_name": "Cellular tumor antigen p53",
            "gene_name": "TP53",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P04637",
                    "url": "https://www.uniprot.org/uniprot/P04637"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs28934873",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934873"
                },
                {
                    "id": "rs28934873",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs28934873"
                },
                {
                    "id": "rs28934873",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28934873"
                },
                {
                    "id": "10477429",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/10477429"
                },
                {
                    "id": "16078640",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/16078640"
                },
                {
                    "id": "16596195",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/16596195"
                },
                {
                    "id": "1933902",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/1933902"
                },
                {
                    "id": "22037554",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/22037554"
                },
                {
                    "id": "24292195",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/24292195"
                },
                {
                    "id": "2531845",
                    "database": "PubMed",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/2531845"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 133,
            "end_pos": 133,
            "sequence_org": "M",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKM->NKT).",
            "chr_id": "17",
            "chr_pos": "7675214",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "M133",
            "keywords": [
                "ebi",
                "somatic",
                "disease"
            ],
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    ],
    "record_id": "pubmed.10477429",
    "abstract": "",
    "glycosylation": [],
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